Skip to main content
SpringerLink
Log in

Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Martin-Brevet S et al (2018) Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study. Biol Psychiatry 84(4):253–264

    Article  CAS  PubMed  Google Scholar 

  2. Weiss LA et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358(7):667–675

    Article  CAS  PubMed  Google Scholar 

  3. McCarthy SE et al (2009) Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41(11):1223–1227

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Steinman KJ et al (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170(11):2943–2955

    Article  CAS  PubMed  Google Scholar 

  5. Rana HQ et al (2013) Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling. Genet Med 15(2):146–149

    Article  CAS  PubMed  Google Scholar 

  6. Barrett MJ et al (2013) Greater risk of parkinsonism associated with non-N370S GBA1 mutations. J Inherit Metab Dis 36(3):575–580

    Article  CAS  PubMed  Google Scholar 

  7. Gan-Or Z et al (2015) Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology 84(9):880–887

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

MS was supported by the Else Kröner-Fresenius Stiftung.

Author information

Authors and Affiliations

  1. Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany

    Benjamin Roeben, Dominik Blum & Matthis Synofzik

  2. German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany

    Benjamin Roeben & Matthis Synofzik

  3. Department of Nuclear Medicine and Clinical Molecular Imaging, University of Tübingen, Tübingen, Germany

    Dominik Blum

  4. CeGaT GmbH/Praxis für Humangenetik Tübingen, Paul-Ehrlich-Str. 23, 72076, Tübingen, Germany

    Heinz Gabriel

Authors
  1. Benjamin Roeben
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Dominik Blum
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Heinz Gabriel
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Matthis Synofzik
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Collection and analysis of data: BR, DB, HG, MS. Drafting of the manuscript: BR, MS. Critical review of the manuscript: BR, DB, HG, MS.

Corresponding author

Correspondence to Matthis Synofzik.

Ethics declarations

Conflicts of interest

None to declare.

Ethical standards

The study was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. All individuals gave written informed consent prior to their inclusion in the present study.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 27 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Roeben, B., Blum, D., Gabriel, H. et al. Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome. J Neurol 266, 775–776 (2019). https://doi.org/10.1007/s00415-019-09182-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-019-09182-7

Search

Navigation